Canonical Allele Identifier: CA2786062002
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819082A>T , CM000671.2:g.129819082A>T GRCh38
NC_000009.11:g.132581361A>T , CM000671.1:g.132581361A>T GRCh37
NC_000009.10:g.131621182A>T NCBI36
NG_008049.1:g.10081T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-162T>A MANE Select ENSP00000345719.4:n.445-162T>A
ENST00000651202.1:c.541-162T>A ENSP00000498222.1:n.541-162T>A
ENST00000351698.4:c.445-162T>A ENSP00000345719.4:n.445-162T>A
ENST00000473604.2:n.555-162T>A
NM_000113.2:c.445-162T>A NP_000104.1:n.445-162T>A
XR_929731.1:n.605-162T>A
XR_929731.3:n.473-162T>A
NM_000113.3:c.445-162T>A MANE Select NP_000104.1:n.445-162T>A
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